Article
Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy.
Nature communications - 10 Jan 2022
Chern Tiffany, Achilleos Annita, Tong Xuefei, Hill Matthew C, Saltzman Alexander B, Reineke Lucas C, Chaudhury Arindam, Dasgupta Swapan K, Redhead Yushi, Watkins David, Neilson Joel R, Thiagarajan Perumal, Green Jeremy B A, Malovannaya Anna, Martin James F, Rosenblatt David S, Poché Ross A
Abstract excerpt
Combined methylmalonic acidemia and homocystinuria (cblC) is the most common inborn error of intracellular cobalamin metabolism and due to mutations in Methylmalonic Aciduria type C and Homocystinuria (MMACHC). Recently, mutations in the transcriptional regulators HCFC1 and RONIN (THAP11) were shown to result in cellular phenocopies of cblC. Since HCFC1/RONIN jointly regulate MMACHC, patients with mutations in...
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